Table 1 Summary of clinical, genomic and RNA data for analysed patients
Sample | Clinical phenotype | MLPA results | Array results | Array breakpoints | Size of breakpoint | RNA results |
|---|---|---|---|---|---|---|
Controls | Â | Â | Â | Â | Â | Â |
Pt 1 | DMD | dup ex2 | dup (intron 1P_intron 2)+ dup intron 2 | chrX:g.(32,882,565_32,885,186)_(32,922,352_32,923,179)dup+ (32,936,752_32,938,681)_(33,055,162_33,055,546)dup | 37,166 + 116,481 | r.(ex2)dup |
Pt 2 | BMD | del ex14 | del (intron 13_ex14) | chrX:g.(32,501,829_32,502,002)_(32,505,571_32,505,939)del | 3,569 | Not available |
Pt 3 | BMD | dup ex3_6 | dup (intron 2_ex6) | chrX:g.(32,744,336_32,744,610)_(32,855,933_32,856,897)dup | 111,323 | r.(ex3_5)dup |
Pt 4 | DMD plus MR | dup ex65_79 | dup (intron 64_*241) | chrX:g.(31,049,450_31,049,716)_(31,138,870_31,139,129)dup | 89,154 | Not available |
Patients | Â | Â | Â | Â | Â | Â |
Pt 5 | DMD | NEG | dup intron 55 | chrX:g.(31,437,578_31,437,692)_(31,441,662_31,442,049)dup | 3,970 | Not available |
Pt 6 | DMD | NEG | del intron 44 + del intron 45 | chrX:g.(31,890,926_31,891,072)_(31,894,874_31,894,891)del+ (31,950,161_31,950,611)_(32,048,920_32,049,217)del | 3,802 + 98,309 | r.(ex45)del |
Pt 7 | DMD | NEG | dup intron 4 | chrX:g.(32,762,962_32,763,096)_(32,764,472_32,764,484)dup | 1,376 | r.0(ex4_5) |
Pt 8 | DMD | NEG | NEG | - | - | r.9563+1215A>G ins9563+1068_9563+9563+1214 |
Pt 9 | DMD | NEG | NEG | - | - | r.(5325+1740_5325+1757)del ins5325+1779_5325+1839 |
Pt 10 | DMD | NEG | NEG | - | - | r.8217+18052A>G ins8217+18053_8217+18102 |
Pt 11 | DMD | NEG | NEG | - | - | - |
Pt 12 | DMD | NEG | NEG | - | - | - |